Background: Although many epidemiologic studies have investigated the methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and their association with acute lymphoblastic leukemia (ALL), definitive conclusions cannot be drawn. To clarify the effects of MTHFR polymorphisms on the risk of ALL, a meta-analysis was performed in a Chinese population.
Materials And Methods: A computerized literature search was carried out in PubMed, the Chinese Biomedicine (CBM) database, China National Knowledge Infrastructure (CNKI) platform, and the Wanfang database (Chinese) to collect relevant articles.
Results: A total of 11 articles including 1,738 ALL cases and 2,438 controls were included in this meta-analysis. Overall, a significantly decreased association was found between the MTHFR C677T polymorphism and ALL risk when all studies in Chinese populations were pooled into the meta-analysis. In subgroup analyses stratified by age, ethnicity, and source of controls, the same results were observed in children, in population-based studies, and in people with no stated ethnicity. However, a significantly increased association was also found for MTHFR C677T in hospital-based studies, and for MTHFR A1298C in people with no stated ethnicity.
Conclusion: Our results suggest that the MTHFR C677T and A1298C polymorphisms may be potential biomarkers for ALL risk in Chinese populations, and studies with a larger sample size and wider population spectrum are required before definitive conclusions can be drawn.
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http://dx.doi.org/10.1159/000368104 | DOI Listing |
Case Rep Genet
January 2025
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, 2825 50th Street, Davis, Sacramento 95817, California, USA.
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.
View Article and Find Full Text PDFInt J Fertil Steril
January 2025
Department of General Surgery, Faculty of Medicine, Tbilisi State Medical University, Tbilisi, Georgia.
Background: Over the past decade, numerous studies have been conducted to determine the role of homocysteine and methylenetetrahydrofolate reductase () gene polymorphisms in the pathogenesis of polycystic ovary syndrome (PCOS), yet the results are inconsistent. The aim of the current study was to determine the association between homocysteine levels (Hcy), ) and A1298C polymorphisms, and pregnancy outcomes in Georgian women with PCOS.
Materials And Methods: This case-control study included 177 female participants, of which 96 women were diagnosed with PCOS, and 81 age-matched women were without PCOS.
Int J Fertil Steril
January 2025
Clinical Pathology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.
Background: Unexplained recurrent miscarriage (RM) is still an unsolved reproductive health problem. Inherited thrombophilias have been one of the causes. Mutation in genes encoding coagulation proteins, including prothrombin (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) genes, increase tendency for venous thromboembolism.
View Article and Find Full Text PDFNutrients
December 2024
Department of Cardiology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China.
The relationship between folate concentrations and stroke risk remains unestablished, and the mediation effect of homocysteine (Hcy) and interaction effect of methylenetetrahydrofolate reductase () gene polymorphism has yet to be investigated. This cohort study involved 4903 subjects derived from a Chinese community population. The association between folate and first stroke was examined in Cox proportional hazard regression models.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia.
Rheumatoid Arthritis (RA) is a chronic and progressive autoimmune disease that affects synovial tissues has greater risk of developing secondary osteoporosis (OP). In particular, polymorphisms in Adenosine Monophosphate Deaminase 1 (AMPD1) and Methylenetetrahydrofolate Reductase (MTHFR) affect the outcome of methotrexate (MTX) treatment in patients with RA. Therefore, this study aimed to determine the association of AMPD1 rs17602729, MTHFR C677T, and MTHFR A1298C polymorphisms with MTX activity in RA patients.
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